Jeselsohn, R., Buchwalter, G., De Angelis, C., Brown, M. & Schiff, R. ESR1 mutations — a mechanism for acquired endocrine resistance in breast cancer. Nat. Rev. Clin. Oncol. 12, 573–583 (2015).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Toy, W. et al. ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. Nat. Genet. 45, 1439–1445 (2013).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 490, 61–70 (2012).

Article  Google Scholar 

Fribbens, C. et al. Plasma ESR1 mutations and the treatment of estrogen receptor-positive advanced breast cancer. J. Clin. Oncol. 34, 2961–2968 (2016).

Article  CAS  PubMed  Google Scholar 

Chandarlapaty, S. et al. Prevalence of ESR1 mutations in cell-free DNA and outcomes in metastatic breast cancer: a secondary analysis of the BOLERO-2 clinical trial. JAMA Oncol. 2, 1310–1315 (2016).

Article  PubMed  PubMed Central  Google Scholar 

Turner, N. C. et al. ESR1 mutations and overall survival on fulvestrant versus exemestane in advanced hormone receptor positive breast cancer: a combined analysis of the phase III SoFEA and EFECT trials. Clin. Cancer Res. 26, 5172–5177 (2020).

Article  CAS  PubMed  Google Scholar 

Bidard, F.-C. et al. Elacestrant (oral selective estrogen receptor degrader) versus standard endocrine therapy for estrogen receptor-positive, human epidermal growth factor receptor 2-negative advanced breast cancer: results from the randomized phase III EMERALD trial. J. Clin. Oncol. 40, 3246–3256 (2022).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bidard, F.-C. et al. Switch to fulvestrant and palbociclib versus no switch in advanced breast cancer with rising ESR1 mutation during aromatase inhibitor and palbociclib therapy (PADA-1): a randomised, open-label, multicentre, phase 3 trial. Lancet Oncol. 23, 1367–1377 (2022).

Article  CAS  PubMed  Google Scholar 

Toy, W. et al. Activating ESR1 mutations differentially affect the efficacy of ER antagonists. Cancer Discov. 7, 277–287 (2017).

Article  CAS  PubMed  Google Scholar 

O’Leary, B. et al. The genetic landscape and clonal evolution of breast cancer resistance to palbociclib plus fulvestrant in the PALOMA-3 trial. Cancer Discov. 8, 1390–1403 (2018).

Article  PubMed  PubMed Central  Google Scholar